Duplication | NC_000017.10:g.(?_15133096)_(15165152_?)dup | PMP22 | Pathogenic | 17 | 15133096 | 15165152 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_15142778)_(15164054_?)dup | PMP22 | Pathogenic | 17 | 15142778 | 15164054 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_15239461)_(15260737_?)del | PMP22 | Pathogenic | 17 | 15142778 | 15164054 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_15134228)_(15164050_?)dup | PMP22 | Pathogenic | 17 | 15134228 | 15164050 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15134297 | 15134297 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000304.4(PMP22):c.79-2A>G | PMP22 | Pathogenic | 17 | 15162512 | 15162512 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.179-2A>G | PMP22 | Pathogenic | 17 | 15142930 | 15142930 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.319+1G>A | PMP22 | Pathogenic | 17 | 15142787 | 15142787 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.214T>C (p.Ser72Pro) | PMP22 | Pathogenic | 17 | 15142893 | 15142893 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000304.4(PMP22):c.215C>G (p.Ser72Trp) | PMP22 | Pathogenic/Likely pathogenic | 17 | 15142892 | 15142892 | G | C | criteria provided, multiple submitters, no conflicts | - |